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Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign.

作者信息

Pooh R K, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O

机构信息

Fetal Brain Center, CRIFM Prenatal Medical Clinic, Osaka, Japan.

Department of Clinical Research, Ritz Medical Co. Ltd., Osaka, Japan.

出版信息

Ultrasound Obstet Gynecol. 2024 Dec;64(6):836-840. doi: 10.1002/uog.27666.

DOI:10.1002/uog.27666
PMID:38642341
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11609882/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/0b729fb45ad8/UOG-64-836-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/ac00e9f53b7c/UOG-64-836-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/6fdb23e8448a/UOG-64-836-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/eb23895e29a1/UOG-64-836-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/0b729fb45ad8/UOG-64-836-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/ac00e9f53b7c/UOG-64-836-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/6fdb23e8448a/UOG-64-836-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/eb23895e29a1/UOG-64-836-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4cad/11609882/0b729fb45ad8/UOG-64-836-g003.jpg

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Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign.早期儒贝尔综合征的开放峡部和拉姆达征：阐明磨牙征的发育过程。
Ultrasound Obstet Gynecol. 2024 Dec;64(6):836-840. doi: 10.1002/uog.27666.
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本文引用的文献

1
'Choroid bar': easy-to-seek marker of normal posterior fossa at 12-14 weeks' gestation.脉络膜丛：12-14 孕周时易于寻找的后颅窝正常标志。
Ultrasound Obstet Gynecol. 2024 Apr;63(4):497-501. doi: 10.1002/uog.27566. Epub 2024 Mar 13.
2
The ERK activator, BCI, inhibits ciliogenesis and causes defects in motor behavior, ciliary gating, and cytoskeletal rearrangement.ERK 激活剂 BCI 抑制纤毛生成，并导致运动行为、纤毛门控和细胞骨架重排缺陷。
Life Sci Alliance. 2023 Mar 13;6(6). doi: 10.26508/lsa.202301899. Print 2023 Jun.
3
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
通过 RNA 研究和社区数据共享，将一个未知意义的内含子 TMEM67 变异体升级为可能的致病性变异体。
Prenat Diagn. 2022 Nov;42(12):1484-1487. doi: 10.1002/pd.6248. Epub 2022 Oct 21.
4
ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography.国际妇产科超声学会实践指南（更新版）：胎儿中枢神经系统超声检查。第2部分：针对性神经超声检查的操作
Ultrasound Obstet Gynecol. 2021 Apr;57(4):661-671. doi: 10.1002/uog.23616. Epub 2021 Mar 18.
5
Prenatal diagnosis of brainstem anomalies.产前诊断脑干异常。
Eur J Paediatr Neurol. 2018 Nov;22(6):1016-1026. doi: 10.1016/j.ejpn.2018.06.011. Epub 2018 Jul 6.
6
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis.第四脑室指数：超声标记重度胎儿蚓部发育不良/发育不全。
Ultrasound Obstet Gynecol. 2019 Mar;53(3):390-395. doi: 10.1002/uog.19034. Epub 2019 Jan 31.
7
Diagnosis of Joubert syndrome via ultrasonography.通过超声检查诊断乔伯特综合征。
J Med Ultrason (2001). 2017 Apr;44(2):197-202. doi: 10.1007/s10396-016-0751-8. Epub 2016 Oct 26.
8
Enlarged intracranial translucency and molar tooth sign in the first trimester as features of Joubert syndrome and related disorders.孕早期颅内透明层增宽和磨牙征作为Joubert综合征及相关疾病的特征
Ultrasound Obstet Gynecol. 2016 Oct;48(4):532-534. doi: 10.1002/uog.15856. Epub 2016 Aug 4.
9
Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.Joubert综合征及相关疾病中第四脑室的产前异常特征。
Ultrasound Obstet Gynecol. 2014 Feb;43(2):227-32. doi: 10.1002/uog.12567.
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Cellular and molecular basis of cerebellar development.小脑发育的细胞和分子基础。
Front Neuroanat. 2013 Jun 26;7:18. doi: 10.3389/fnana.2013.00018. eCollection 2013.